Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.I54T
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PAX2

NM_000278.5:p.I54T

Associated Papers

Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.

Fu M et al.

Renal Failure, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."